Journal of Genetic Counseling, Vol. 2, No. 1, 1993

Harlequin Iehthyosis Among the Navajo: Counseling Issues P a t r i c i a N. O l n e y I and R i c h a r d S. O l n e y 2'3

Harlequin Ichthyosis is a rare, fatal congenital disorder of keratin&ation characterized by thickened, scale-like plaques o f skin with a diamond configuration. Autosomal recessive inheritance has been established, and prenatal diagnosis for this disorder remains controversial. Five infants with this disorder were born among approximately 25,000 Navajo women who delivered in Gallup, New Mexico from 1970 to 1989. The incidence of 1 in 5000 among the Navajo in Gallup is high compared to previous reports in other populations. Two families with affected infants were seer{ in a genetics outreach clinic. Two important counseling issues were raised: (1) reluctance to discuss the possibility of recurrence for fear of affecting the outcome, and (2) feelings of guilt caused by cultural beliefs which attributed the birth defect to paternal behavior during pregnancy. Such issues are encountered in many traditional cultures, and they can be addressed by tailoring the timing and content of counseling. KEY WORDS: Harlequin Ichthyosis; genetic counseling; Navajo culture; prenatal diagnosis; guilt.

INTRODUCTION T h e N a v a j o p e o p l e , o r Dineh, as they call t h e m s e l v e s , live in a n a r e a t h e size o f W e s t V i r g i n i a in t h e high d e s e r t o f the S o u t h w e s t . T h e r e s e r v a t i o n e x t e n d s a c r o s s n o r t h e a s t e r n A r i z o n a to n o r t h w e s t e r n N e w M e x i c o , 1Department of Obstetrics and Gynecology, The University of New Mexico, Albuquerque, New Mexico. ZDepartment of Pediatrics, Gallup Indian Medical Center, Gallup, New Mexico. 3Correspondence should be directed to Richard S. Olney, Centers for Disease Control, Mailstop F-45, Atlanta, Georgia 30333. The opinions expressed are those of the authors, and are not to be construed as reflecting the views of the Public Health Service.

1059-7700/93/0300-0003507.00/1 9 1993 Nm.ional Society of Genetic Counse.lors, Inc.

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and.into southern Utah. The Navajo now number approximately 200,000 (Indian Health Service, 1991). In a time of striving for economic self-sufficiency, the Navajo still strongly adhere to their cultural, social, and traditional values. Many live in traditional dwellings called hogans, eight-sided log homes with earthen floors and wood stoves at the center. Rug weaving, sheepherding, and silversmithing are some of their forms of livelihood. Access to medical care is limited by their lifestyle. Many live miles from the nearest clinic or hospital, along dirt roads, and not all have vehicles for transportation. The Gallup Indian Medical Center (G.I.M.C.), the Public Health Service hospital on the eastern side of the reservation, serves a population of 38,000 Native Americans. Nearly all of the approximately 1200 annual births are to Native Americans. To help meet the needs of this large rural population, a genetic counseling outreach clinic was established in 1988 for the G.I.M.C. Department of Obstetrics, with support from the University of New Mexico Department of Obstetrics and Gynecology. The first step in establishing this clinic was providing better access to genetic counseling services; the second step was understanding the traditional beliefs of a culturally distinct population. Navajo beliefs regarding pregnancy and childbirth include traditions integral to remaining in harmony with their natural, spiritual, and cultural world. A person may fall out of harmony with nature by his actions, omission or commission, resulting in sickness for himself or his family. Disharmony is a consequence of breaking taboos in everyday life. For example, tying knots while weaving rugs would result in a difficult childbirth. If a woman used a six-pronged weaving comb, the child would be born with six toes (Waxman, 1990). Similar taboos have been described with much consistency from one end of the Navajo reservation to the other, including avoidance of dead animals or funerals during pregnancy. By appreciating cultural differences, some barriers to genetic counseling are more easily overcome.

HARLEQUIN ICHTHYOSIS: INCIDENCE DATA AND MEDICAL GENETIC ISSUES The birth of two infants with Harlequin Ichthyosis within 4 months in unrelated families prompted a review of death records at G.I.M.C. from 1970 to 1989. In the review, a total of five documented affected live births were found. Each affected infant was from a different Navajo family. Thus, the incidence of Harlequin Ichthyosis was approximately 1 in 5000 at G.I.M.C., a much higher rate than expected for this usually rare genetic

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disorder. Previous estimates of incidence have been as low as 1 in 300,000 (Williams, 1990). Harlequin Ichthyosis is a congenital disorder of keratinization within a heterogeneous group of genetic skin disorders. The skin is thickened and fissured, often dividing into scale-like, polygonal plaques. The arrangement of plaques in a diamond configuration gives this disorder its name; the harlequin is a character in comedy and pantomime with a masked face and a multicolored suit of tights. The tight, thickened skin causes an eversion of the eyelids and lips (ectropion and eclabium) and can produce flexion deformities of the limbs, sometimes with necrosis of the digits. The mouth is held widely open. Most affected infants die within a few days or weeks (Elias et al., 1980; Mihalko et al., 1989). Several family reports, along with evidence of parental consanguinity, support an autosomal recessive mode of inheritance (McKusick, 1992). The syndrome's remarkable clinical appearance and its grave prognosis distinguish it from other types of ichthyoses. Prenatal diagnosis of this disorder has been reported by fetal skin biopsy in the second trimester and more recently sonographically in the early third trimester, yet the timing of such evaluations is debatable (Blanchet-Bardon et aL, 1983; Elias et al., 1980; Mihalko et al., 1989; Suzumori and Kanzaki, 1991). Some authors argue that fetal skin sampling at 20-22 weeks gestation is too early, since normal keratinization does not begin until the 24th week. Fetal skin biopsy therefore presents a risk for false negatives (Arnold and Anton-Lamprecht, 1985). A case has been reported in which ultrasound evaluation at 28 weeks gestation revealed features consistent with Harlequin Ichthyosis. Diagnosis was confirmed at autopsy. The authors of this report state that it remains to be seen whether the diagnosis can be established sonographically early enough to offer parents pregnancy termination (Mihalko et al., 1989).

CASE PRESENTATIONS Two unrelated Navajo families were seen whose affected infants delivered at Gallup Indian Medical Center. Both couples had known family histories of Harlequin Ichthyosis, and had been previously informed of their 25% recurrence risk. Both of their previously affected infants lived only a few hours, and their diagnoses were confirmed after birth at medical centers in Arizona. Both families were of Navajo descent, and not known to be consanguineous. Detailed family histories for both families did not reveal any other individuals with birth defects or neonatal losses.

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Case 1

The first family was referred during pregnancy by the obstetrician for genetic counseling at the Gallup outreach clinic. A dating ultrasound was obtained during the fourteenth week of gestation, and the couple was seen for counseling 1 month later. They had a healthy 8-year-old after their first affected infant and hoped for the same again. Recessive inheritance was reviewed with the couple. They were reluctant to discuss the possibility of having an affected fetus again, and declined any prenatal testing, including an extensive ultrasound. They preferred not to know the outcome prior to birth. Their affected infant died shortly after birth. A follow-up appointment after the birth was not held. Case 2

The second family refused genetic counseling during the pregnancy. Their affected infant lived for 2 days, and the mother refused to see the infant. This couple separated after the birth, and the father visited frequently during these 2 days. They requested genetic counseling 2 weeks following the death of their affected infant. At that time, they openly discussed their cultural beliefs regarding the etiology of birth defects.

DISCUSSION These case reports illustrate counseling issues which are not unique to Navajo culture. The barriers which were encountered included (1) reluctance to discuss negative thoughts during pregnancy, and (2) feelings of guilt fueled by a cultural belief. Such barriers are encountered in genetic counseling sessions involving a different culture or spiritual belief system. In order to overcome some of these barriers, the counselor attempts to appreciate and respect the cultural differences (Burney et al., 1987). In some cultures, taboos discourage discussion of negative thoughts during pregnancy. The couple referred for genetic counseling during the pregnancy (Case 1) was reluctant to discuss the possibility of another affected fetus, in spite of knowing their 25% recurrence risk. According to one Navajo taboo, a pregnant woman who does not think happy thoughts would have difficulty with her pregnancy, labor, and delivery (Waxman, 1990). This couple's reluctance to discuss a potentially adverse outcome may have reflected the belief that negative maternal thoughts could cause birth defects.

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In many societies, teratogenic events are thought to be beyond human control and understanding. Spiritual interpretation is then needed when birth defects occur, which attributes these events to an "outside influence" (Kenen, 1980). Kenen presents a teratogenic theory involving the concept of adverse maternal impressions causing birth defects. For example, an old Norwegian law prohibited butchers from hanging their hares in public, fearing that such a sight would cause pregnant women to have children with "hare" lip or cleft lip. Also, maternal frights, worry or shock could produce malformations in a non-direct way. Such beliefs have survived in many cultures, as they have among traditional Navajo, despite the fact that birth defects occur to mothers not experiencing adverse emotions or thoughts. In such cases, it may be more productive to counsel some time after the delivery. Individual beliefs regarding the etiology of birth defects may differ between cultures, and even within a culture, yet feelings of guilt are universal. The Navajo couple counseled after the birth of their affected infant (Case 2) was able to verbalize their feelings of guilt, especially the father of the child. He connected the scaly appearance of the infant's skin and fish-like facial features with his belief that eating fish during pregnancy was forbidden. In the Navajo culture, taboos involve both husband and wife during pregnancy and could affect the child before or after birth, as well as affect the woman's labor and delivery (Waxman, 1990). The breaking of a cultural taboo provided them with a reason for the occurrence of the Harlequin Syndrome. This father's confession, a key first step in genetic counseling (Kessler et al., 1984), helped him deal with his feelings of guilt by expressing the belief that the undesired outcome was due to a personal act of commission. This may have helped him through the process of grieving his loss. Guilt is a common feeling often encountered during a genetic counseling session after the birth of an affected child. As stated by Kessler, "To feel guilty implies that one had the capacity to alter events. The thought that if one had acted differently, one might have averted the birth of an affected child suggests that there were choices to be made and that one had the power to make a different choice" (Kessler, 1979). The Navajo father felt responsible for this child's birth defects, yet acknowledging this responsibility allowed him to reconcile his guilt. These feelings are most effectively dealt with by helping the couple verbalize them, by empathizing with the couple, and by validating their belief system. It is also important for the counselor to recognize differences between individuals within a culturally distinct population. As with many religious or philosophical systems of belief, the interpretation of the teachings may vary among the individual members of the group (Paul and Kavanagh, 1990).

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By appreciating and respecting cultural differences, the genetic counselor becomes a better communicator.

SUMMARY Harlequin Ichthyosis, a rare genetic disorder, is more common among the Navajo on the eastern side of their reservation than has been described previously in the general population. Prenatal diagnosis for this condition has its pitfalls, and therefore remains controversial. Some traditional Navajo families may prefer not to know the outcome of a pregnancy prior to birth, and genetic counseling can be appropriately timed. Cultural beliefs provide a family with answers regarding the cause of a devastating birth defect and allow them to reconcile their guilt.

REFERENCES Arnold ML, Anton-Lamprecht 1 (1985) Problems in prenatal diagnosis of the ichthyosis congenita group. Human Genet 71(4):301-311. Blanchet-Bardon C, Dumez Y, Labbe F, Lutzner MA, Puissant A, Henrion R, Bernheim A (1983) Prenatal diagnosis of harlequin fetus (letter). Lancet 1:132. Burney L R, Dumars KW, Chea CS, Nguyen HD, Bustillo AM (1987) The Southeast Asian refugee: The impact of cultural variation on the genetic counseling process. Birth Defects 23(6): 239-244. Elias S, Mazur M, Sabbagha R, Esterly NB, Simpson JL (1980) Prenatal diagnosis of harlequin ichthyosis. Clin Genet 17: 275-280. Indian Health Service (1991) Trends in Indian Health--1991. Washington, D.C.: U.S. Department of Health and Human Services. Kenen RH (1980) Negotiations, superstitions, and the plight of individuals born with severe birth defects. Soc Sci Med 14A: 279-286. Kessler S (1979) Genetic Counseling: Psychological Dimensions. New York: Academic Press. Kessler S, Kessler H, Ward P (1984) Psychological aspects of genetic counseling. I11. Management of guilt and shame. Am J Med Genet 17:673-697. McKusick VA (1992) Mendelian Inheritance in Man: Catalogs of Autosomal Dominant, Autosomal Recessive, and X-linked Phenotypes. Baltimore: Johns Hopkins University Press. Mihalko M, Lindfors KK, Grix AW, Brant WE, McGahan JP. (1989) Prenatal sonographic diagnosis of harlequin ichthyosis. Am J Radiol 153:827-828. Paul N, Kavanagh L (1990) Genetic services for underserved populations. Birth Defects 26(2):244. Suzumori K, Kanzaki T (1991) Prenatal diagnosis of harlequin ichthyosis by fetal skin biopsy; report of two cases. Prenatal Diag 11:451-457. Waxman AG (1990) Navajo childbirth in transition. Med Anthropol 12:187-206. Williams ML (1990) Ichthyosis, harlequin fetus. In: Buyse ML (ed) Birth Defects Encyclopedia. Dover: Center for Birth Defects Information Services.

Harlequin Ichthyosis among the Navajo: Counseling issues.

Harlequin Ichthyosis is a rare, fatal congenital disorder of keratinization characterized by thickened, scale-like plaques of skin with a diamond conf...
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